Spondyloepimetaphyseal Dysplasia, Sponastrime Type: Clinical Report

Spondyloepimetaphyseal skeletal dysplasia-sponastrime type is an exceedingly rare autosomal recessive caused by biallelic pathogenic variants in the TONSL gene. We report here a 23-year-old female with short stature and facial dysmorphism who had initially presented with pneumothorax. Her history included corrective surgery for genu valgum at age 13 years and bilateral eye surgery at age 14 years for poor vision. Similar features were noted in her elder brother, emphasizing the familial pattern. In addition, she also had bronchiectasis which was not present in her brother. With the clinical and radiological features, a diagnosis of sponastrime dysplasia was considered. Whole exome sequencing identified two heterozygous missense variants, c.340G>C and c.1459G>A, in the TONSL gene in the proband. This case highlights the classic clinical and radiological features of sponastrime dysplasia and underscores the challenges in genetic diagnosis with novel and uncertain variants.